Metabolism, Inborn Errors
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Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero. |
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GEN: prefer specific types; differentiate from DEFICIENCY DISEASES; DF: METAB INBORN ERR |
Metabolism, Inborn Errors Categories.
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Amino Acid Metabolism, Inborn Errors - Disorders affecting amino acid metabolism. The majority of these disorders are inherited and present in the neonatal period with metabolic disturbances (e.g., ACIDOSIS) and neurologic manifestations. They are present at birth, although they may not become symptomatic until later in life. |
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Amino Acid Transport Disorders, Inborn - Disorders characterized by defective transport of amino acids across cell membranes. These include deficits in transport across brush-border epithelial cell membranes of the small intestine (MICROVILLI) and KIDNEY TUBULES; transport across the basolateral membrane; and transport across the membranes of intracellular organelles. (From Nippon Rinsho 1992 Jul;50(7):1587-92) |
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Amyloidosis, Familial - Diseases in which there is a familial pattern of AMYLOIDOSIS. |
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Carbohydrate Metabolism, Inborn Errors |
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Cytochrome-c Oxidase Deficiency - A disease that results from a congenital defect in ELECTRON TRANSPORT COMPLEX IV. Defects in ELECTRON TRANSPORT COMPLEX IV can be caused by mutations in the SURF1, SCO2, COX10, or SCO1 genes. ELECTRON TRANSPORT COMPLEX IV deficiency caused by mutation in SURF1 manifests itself as LEIGH DISEASE; that caused by mutation in SCO2 as fatal infantile cardioencephalomyopathy; that caused by mutation in COX10 as tubulopathy and leukodystrophy; and that caused by mutation in SCO1 as early-onset hepatic failure and neurologic disorder. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#220110, May 17, 2001) |
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Hyperbilirubinemia, Hereditary - Inborn errors of bilirubin metabolism resulting in excessive amounts of bilirubin in the circulating blood, either because of increased bilirubin production or because of delayed clearance of bilirubin from the blood. |
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Jaundice, Chronic Idiopathic - A benign, autosomally recessive inherited hyperbilirubinemia characterized by the presence of a dark pigment in the centrilobular region of the liver cells. There is a functional defect in biliary excretion of bilirubin, cholephilic dyes, and porphyrins. Affected persons may be asymptomatic or have vague constitutional or gastrointestional symptoms. The liver may be slightly enlarged, and oral and intravenous cholangiography fails to visualize the biliary tract. |
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Lipid Metabolism, Inborn Errors |
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Lysosomal Storage Diseases - Inborn errors of metabolism characterized by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolized substrates. |
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Metal Metabolism, Inborn Errors |
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Porphyria, Erythropoietic - Autosomal recessive porphyria characterized by splenomegaly, photosensitivity, hemolytic anemia, and the appearance of red urine in early infancy. This condition results from increased synthesis of uroporphyrinogen I relative to uroporphyrinogen III in bone marrow normoblasts. |
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Progeria - An abnormal congenital condition, associated with defects in the LAMIN TYPE A gene, which is characterized by premature aging in children, where all the changes of cell senescence occur. It is manifested by premature greying; hair loss; hearing loss (DEAFNESS); cataracts (CATARACT); ARTHRITIS; OSTEOPOROSIS; DIABETES MELLITUS; atrophy of subcutaneous fat; skeletal hypoplasia; elevated urinary HYALURONIC ACID; and accelerated ATHEROSCLEROSIS. Many affected individuals develop malignant tumors, especially SARCOMA. |
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Purine-Pyrimidine Metabolism, Inborn Errors |
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Steroid Metabolism, Inborn Errors - Errors in metabolic processing of STEROIDS resulting from inborn genetic mutations that are inherited or acquired in utero. |
Metabolism, Inborn Errors Definitions and Terms
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